Inverted formin 2-related Charcot-Marie-Tooth disease: Extension of the mutational spectrum and pathological findings in Schwann cells and axons

Journal of the Peripheral Nervous System

Volumn 20, Issue 1, 2015, Pages 52-59

  Roos, Andreas ^a,b   Weis, Joachim ^a   Korinthenberg, Rudolf ^c   Fehrenbach, Henry ^d   Häusler, Martin ^a   Züchner, Stephan ^e   Mache, Christoph ^f   Hubmann, Holger ^f   Auer Grumbach, Michaela ^g   Senderek, Jan ^h  

^a UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

^b LEIBNIZ INSTITUT FÜR ANALYTISCHE WISSENSCHAFTEN ISAS E V   (Germany)

^c UNIVERSITY OF FREIBURG   (Germany)

^d Memmingen Hospital   (Germany)

^e UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^f MEDICAL UNIVERSITY OF GRAZ   (Austria)

^g MEDICAL UNIVERSITY OF VIENNA   (Austria)

^h LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

Author keywords

actin dynamics; CDC42; CMTDIE; focally folded myelin; FSGS CMT; INF2

Indexed keywords

MYELIN; ACTIN BINDING PROTEIN; INF2 PROTEIN, HUMAN;

ADOLESCENT; ADULT; ARTICLE; CELL EXPANSION; CLINICAL ARTICLE; ENDOPLASMIC RETICULUM; EXON; FEMALE; GENE; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN CELL; HUMAN TISSUE; HYDROCEPHALUS; INF2 GENE; INTELLECTUAL IMPAIRMENT; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; MOLECULAR GENETICS; NERVE BIOPSY; NERVE CONDUCTION; NERVE FIBER; NERVE SHEATH; PRIORITY JOURNAL; SCHWANN CELL; YOUNG ADULT; AXON; CASE REPORT; CHILD; COMPLICATION; DIAGNOSTIC IMAGING; ECHOGRAPHY; FOCAL GLOMERULOSCLEROSIS; GENETIC SCREENING; GENETICS; METABOLISM; MUTATION; PATHOLOGY; PERIPHERAL NERVE; SKELETAL MUSCLE;

ADOLESCENT; ADULT; AXONS; CHARCOT-MARIE-TOOTH DISEASE; CHILD; FEMALE; GENETIC TESTING; GLOMERULOSCLEROSIS, FOCAL SEGMENTAL; HUMANS; MICROFILAMENT PROTEINS; MUSCLE, SKELETAL; MUTATION; PERIPHERAL NERVES; SCHWANN CELLS; ULTRASONOGRAPHY; YOUNG ADULT;

EID: 84930971768     PISSN: 10859489     EISSN: 15298027     Source Type: Journal    
DOI: 10.1111/jns.12106     Document Type: Article

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